Skip to main content

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

The Original Article was published on 05 October 2017

Correction

Following publication of the original article [1], the authors reported an error in Table 3 on page 4. Variant No. 18 should be “p.Ser339Phe c.1016C>T” (as given in Number 117 of Additional file 2). Other errors were found in the original Additional file 2, which has been replaced with an updated version (see below).

Additional file 2. Spectrum of PAH gene variants in a Chinese Han population

Number

Trivial name

(Protein effect)

Systematic name

(DNA level)

Location

Variant type

Allele frequency

(%)

1

p.S16*

c.47-48delCT

Exon 1

Deletion

0.2

2

c.61-3T>C

Intron 1

Splicing

0.1

3

p.Arg53His

c.158G>A

Exon 2

Missense

4.7

4

p.Arg53Cys

c.157C>T

Exon 2

Missense

0.1

5

p.Glu44del

c.131-133delAAG

Exon 2

Deletion

0.2

6

p.Glu56Asp

c.168G>T

Exon 2

Missense

0.1

7

c.168+2T>C

Intron 2

Splicing

0.1

8

c.168+5G>C

Intron 2

Splicing

0.1

9

p.Ile65Thr

c.194T>C

Exon 3

Missense

0.5

10

p.Ile65Ser

c.194T>G

Exon 3

Missense

0.2

11

p.Ser70del

c.208-210delTCT

Exon 3

Deletion

2.5

12

p.Asp75His

c.223G>C

Exon 3

Missense

0.1

13

p.Tyr77*

c.231T>G

Exon 3

Nonsense

0.1

14

p.Ile94Val

c.280A>G

Exon 3

Missense

0.1

15

p.Asp101Asn

c.301G>A

Exon 3

Missense

0.3

16

p.Gly103Asp

c.308G>A

Exon 3

Missense

0.2

17

p.His107Arg

c.320A>G

Exon 3

Missense

1.8

18

p.Arg111*

c.331C>T

Exon 3

Nonsense

4.4

19

p.Glu78Phefs*13

c.232-235delGAAT

Exon 3

Deletion

0.1

20

p.Ile95del

c.284-286deTCA

Exon 3

Deletion

0.1

21

IVS3-2A>G

c.353-2A>G

Intron3

Splicing

0.1

22

p.Pro147Leu

c.440C>T

Exon 4

Missense

0.2

23

c.441+1G>A

Intron 4

Splicing

0.1

24

c.441+3G>C

Intron 4

Splicing

0.4

25

c.442-1G>A

Intron 4

Splicing

3.4

26

c.442-1G>C

Intron 4

Splicing

0.1

27

c.442-14C>T

Intron 4

Splicing

0.1

28

p.Tyr154*

c.462C>A

Exon 5

Nonsense

0.1

29

p.Arg155His

c.464G>A

Exon 5

Missense

0.2

30

p.Arg156Pro

c.466G>C

Exon 5

Missense

0.2

31

p.Arg158Trp

c.472C>T

Exon 5

Missense

0.5

32

p.Arg158Gln

c.473G>A

Exon 5

Missense

0.5

33

p.Gln160*

c.478 C>T

Exon 5

Nonsense

0.2

34

p.Phe161Ser

c.482T>C

Exon 5

Missense

1.0

35

p.Ala165Asp

c.494C>A

Exon 5

Missense

0.1

36

p.Tyr166*

c.498C>G

Exon 5

Nonsense

0.6

37

p.Arg169Ser

c.505C>A

Exon 5

Missense

0.1

38

p.Arg169Cys

c.505C>T

Exon 5

Missense

0.2

39

p.Arg169His

c.506G>A

Exon 5

Missense

0.1

40

p.His170Arg

c.509A>G

Exon 5

Missense

0.1

41

p.His170Gln

c. 510T>A

Exon 5

Missense

0.3

42

p.Arg155Valfs*40

c.463delC

Exon 5

Deletion

0.1

43

c.509+1G>A

Intron 5

Splicing

0.1

44

c.510-1G>A

Intron 5

Splicing

0.1

45

c.510-1G>C

Intron 5

Splicing

0.1

46

p.Gly171Arg

c.511G>A

Exon 6

Missense

0.1

47

p.Gln172His

c.516G>T

Exon 6

Missense

0.1

48

p.Arg176*

c.526C>T

Exon 6

Nonsense

2.0

49

p.Glu178Lys

c.532 G>A

Exon 6

Missense

0.1

50

p.Glu183Gly

c.548A>G

Exon 6

Missense

0.1

51

p.Trp187*

c.561G>A

Exon 6

Nonsense

0.1

52

p.Trp187Arg

c.559T>C

Exon 6

Missense

0.1

53

p.Gly188Val

c.563G>T

Exon 6

Missense

0.1

54

p.His201Arg

c.602A>G

Exon 6

Missense

0.1

55

p.Cys203Ser

c.607T>A

Exon 6

Missense

0.1

56

p. Ex6-96A>G

c.611A>G

Exon 6

Splicing

0.1

57

p.Cys217Tyr

c.650G>A

Exon 6

Missense

0.1

58

p.Ile224Thr

c.671T>C

Exon 6

Missense

0.4

59

p.Leu227Val

c.679C>G

Exon 6

Missense

0.1

60

p.Glu228Asp

c.684A>C

Exon 6

Missense

0.1

61

p.Val230Ile

c.688G>A

Exon 6

Missense

0.5

62

p.Val230A

c.689T>C

Exon 6

Missense

0.1

63

p.Gln232*

c.694C>T

Exon 6

Nonsense

0.2

64

p.Phe233Leu

c.699C>A

Exon 6

Missense

0.2

65

p.Leu194Glufs*6

c.580C>GA

Exon 6

Indel

0.1

66

p.Ser231Valfs*52

c.690-691insG

Exon 6

Insertion

0.1

67

c.707-1G>A

Intron 6

Splicing

0.2

68

p.Arg241Cys

c.721C>T

Exon 7

Missense

4.6

69

p.Arg241His

c.722G>A

Exon 7

Missense

0.4

70

p.Arg241Leu

c.722G>T

Exon 7

Missense

0.1

71

p.Leu242Phe

c.724C>T

Exon 7

Missense

0.2

72

p.Arg243Gln

c.728G>A

Exon 7

Missense

17.7

73

p.Arg243*

c.727C>T

Exon 7

Nonsense

0.1

74

p.Val245Met

c.733G>A

Exon 7

Missense

0.1

75

p.Gly247Val

c.740G>T

Exon 7

Missense

1.5

76

p.Gly247Arg

c.739G>C

Exon 7

Missense

0.7

77

p.Ser250Phe

c.749C>T

Exon 7

Missense

0.1

78

p.Arg252Gln

c.755G>A

Exon 7

Missense

0.6

79

p.Arg252Trp

c.754C>T

Exon 7

Missense

0.3

80

p.Arg252Gly

c. 754C>G

Exon 7

Missense

0.1

81

p.Arg252Pro

c.755G>C

Exon 7

Missense

0.1

82

p.Leu255Ser

c.764T>C

Exon 7

Missense

0.4

83

p.Gly257Val

c.770G>T

Exon 7

Missense

0.6

84

p.Arg261Gln

c.782G>A

Exon 7

Missense

1.7

85

p.Arg261*

c.781C>T

Exon 7

Nonsense

0.1

86

p.Phe263Leu

c.787T>C

Exon 7

Missense

0.1

87

p.Gln267Glu

c.799C>G

Exon 7

Missense

0.2

88

p.Tyr268*

c.804C>A

Exon 7

Nonsense

0.1

89

p.Arg270Lys

c.809G>A

Exon 7

Missense

0.2

90

p.Arg270Ile

c. 809G>T

Exon 7

Missense

0.1

91

p.His271Arg

c.812A>G

Exon 7

Missense

0.1

92

p.Pro275Leu

c.824C>T

Exon 7

Missense

0.2

93

p.Met276Lys

c.827T>A

Exon 7

Missense

0.2

94

p.Met276Arg

c.827T>G

Exon 7

Missense

0.1

95

p.Thr278Ile

c.833C>T

Exon 7

Missense

0.1

96

p.Glu280Lys

c.838G>A

Exon 7

Missense

0.4

97

p.Pro281Arg

c.842C>G

Exon 7

Missense

0.1

98

p.Arg241Profs*100

c.722delG

Exon 7

Deletion

0.5

99

c.842+1G>A

Intron 7

Splicing

0.2

100

c.843-1G>A

Intron 7

Splicing

0.2

101

c.842+2T>A

Intron 7

Splicing

1.5

102

p.Val291Met

c.871G>A

Exon 8

Missense

0.1

103

p.Ala300Ser

c.898G>T

Exon 8

Missense

0.1

104

p.Ser303Pro

c.907T>C

Exon 8

Missense

0.1

105

p.Ser303Profs*38

c.907delT

Exon 8

Deletion

0.1

106

c.912+1G>A

Intron 8

Splicing

0.1

107

c.912+16T>A

Intron 8

Splicing

0.1

108

c.913-7A>G

Intron 8

Splicing

0.2

109

p.Ser310Phe

c.929C>T

Exon 9

Missense

0.1

110

p.Ser310Cys

c.929C>G

Exon 9

Missense

0.1

111

p.Gly312Val

c.935G>T

Exon 9

Missense

0.1

112

p.Pro314Thr

c.940C>A

Exon 9

Missense

0.4

113

p.Ala322Thr

c.964G>A

Exon 9

Missense

0.2

114

p.Ile324Asn

c.971T>A

Exon 10

Missense

0.4

115

p.Trp326*

c.977G>A

Exon 10

Nonsense

0.2

116

p.Phe331Ser

c.992T>C

Exon 10

Missense

0.1

117

p.Ser339Phe

c.1016C>T

Exon 10

Missense

0.1

118

p.Lys341Asn

c.1023G>C

Exon 10

Missense

0.1

119

p.Ala342Hisfs*58

c.1024delG

Exon 10

Deletion

0.1

120

p.Gly344Asp

c.1031G>A

Exon 10

Missense

0.1

121

p.Gly344Ser

c.1030G>A

Exon 10

Missense

0.1

122

p.Ala345Thr

c.1033G>A

Exon 10

Missense

0.1

123

p.Ser349Ala

c.1045T>G

Exon 10

Missense

0.4

124

p.Gly352Arg

c.1054G>C

Exon 10

Missense

0.1

125

p.Gln355*

c.1063C>T

Exon 10

Nonsense

0.1

126

c.1066-1G>T

Intron 10

Splicing

0.2

127

c.1066-11G>A

Intron 10

Splicing

0.1

128

c.1066-13delT

Intron 10

Splicing

0.1

129

c.1066-14C>G

Intron 10

Splicing

0.1

130

p.Tyr356*

c.1068C>A

Exon 11

Nonsense

4.7

131

p.Cys357*

c.1071C>A

Exon 11

Nonsense

0.1

132

p.Pro362Ser

c.1084C>T

Exon 11

Missense

0.1

133

p.Pro362Thr

c.1084C>A

Exon 11

Missense

0.1

134

p.Lys363Asn

c.1089G>T

Exon 11

Missense

0.2

135

p.Pro366Ala

c.1096C>G

Exon 11

Missense

0.1

136

p.Thr372Ser

c.1114A>T

Exon 11

Missense

0.1

137

p.Thr372Arg

c.1115 C>G

Exon 11

Missense

0.1

138

p.Ala373Thr

c.1117G>A

Exon 11

Missense

0.1

139

p.Gln375Glu

c.1123C>G

Exon 11

Missense

0.3

140

p.Thr380Met

c.1139C>T

Exon 11

Missense

0.2

141

p.Val388Met

c.1162G>A

Exon 11

Missense

0.1

142

p.Ser391Thr

c.1172G>C

Exon 11

Missense

0.1

143

p.Phe392Ile

c.1174T>A

Exon 11

Missense

0.4

144

p.Lys398=

c.1194A>G

Exon 11

Splicing

0.1

145

p.Val399=

c.1197A>T

Exon 11

Splicing

6.4

146

p.Arg400Thr

c.1199G>C

Exon 11

Missense

0.5

147

p.Arg400Lys

c.1199G>A

Exon 11

Missense

0.2

148

c.1199+1G>C

Intron11

Splicing

0.2

149

c.1199+2T>C

Intron 11

Splicing

0.2

150

c.1200-1G>C

Intron 11

Splicing

0.1

151

c.1200-1G>A

Intron 11

Splicing

0.2

152

c.1200-3T>G

Intron11

Splicing

0.2

153

p.Ala403Val

c.1208C>T

Exon 12

Missense

1.0

154

p.Arg408Trp

c.1222C>T

Exon 12

Missense

0.4

155

p.Arg408Gln

c.1223G>A

Exon 12

Missense

0.6

156

p.Arg413Pro

c.1238G>C

Exon 12

Missense

4.6

157

p.Tyr414*

c.1242C>A

Exon 12

Nonsense

0.1

158

p.Asp415Tyr

c.1243G>T

Exon 12

Missense

0.1

159

p.Thr418Pro

c.1252A>C

Exon 12

Missense

0.6

160

p.Gln419Arg

c.1256A>G

Exon 12

Missense

0.7

161

p.Ile421Thr

c.1262T>C

Exon 12

Missense

0.2

162

p.Gln429Lys

c.1285C>A

Exon 12

Missense

0.1

163

p.Leu430Pro

c.1289T>C

Exon 12

Missense

0.2

164

p.Ala434Asp

c.1301C>A

Exon 12

Missense

1.7

165

c.1315+4A>G

Intron 12

Splicing

0.1

166

c.1315+6T>A

Intron 12

Splicing

0.3

167

c.1316-2A>C

Intron 12

Splicing

0.2

168

p.Leu444Phe

c.1330C>T

Exon 13

Missense

0.1

169

p.*453Proext*33

c.1357delTAAAG

Exon 13

Deletion

0.1

170

 

5’ UTR

~E1

Deletion

0.6

171

c.(168+1_169-1)_c. (352+1_353-1)del

E3

Deletion

0.1

172

c. (441+1_442-1)_(842+1_843-1)del

E4~E7

Deletion

0.1

173

c. (441+1_442-1) _c. (509+1_510-1)del

E5

Deletion

0.1

174

c. (441+1_442-1)_(509+1_510-1)del

E4~E5

Deletion

0.2

Detected

96.6

Unknown

3.4

Total

100

  1. Novel alleles identified in the current study.

Reference

  1. Liu N, Huang Q, Li Q, Zhao D, Li X, Cui L, Bai Y, Feng Y, Kong X. Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. BMC Med Genet. 2017;18:108. doi: 10.1186/s12881-017-0467-7.

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Xiangdong Kong.

Additional information

The original article can be found online at https://doi.org/10.1186/s12881-017-0467-7.

Rights and permissions

Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Liu, N., Huang, Q., Li, Q. et al. Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. BMC Med Genet 19, 6 (2018). https://doi.org/10.1186/s12881-017-0516-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1186/s12881-017-0516-2